A129E (p.Ala129Glu) variant of RUNX1 (Q01196)
A129E (p.Ala129Glu) in RUNX1 (Q01196) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary thrombocytopenia and hematologic cancer predisposition syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
A129E (p.Ala129Glu) variant details
- p.Ala129Glu
- rs267607026
- ClinGen CA248628
- ClinVar RCV000015558
- ClinVar RCV004595490
- Likely pathogenic
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Hereditary thrombocytopenia and hematologic cancer predispositio)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. (PMID 19357396)
- Cited in: RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies. (PMID 33661592)